Canonical Allele Identifier: CA2747722557

Gene: USH2A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.215817276_215817277insAGT , CM000663.2:g.215817276_215817277insAGT	GRCh38
NC_000001.10:g.215990618_215990619insAGT , CM000663.1:g.215990618_215990619insAGT	GRCh37
NC_000001.9:g.214057241_214057242insAGT	NCBI36
NG_009497.1:g.611120_611121insACT
NG_009497.2:g.611172_611173insACT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.9372-82_9372-81insACT MANE Select	ENSP00000305941.3:n.9372-82_9372-81insACT
ENST00000674083.1:c.9372-82_9372-81insACT	ENSP00000501296.1:n.9372-82_9372-81insACT
ENST00000307340.7:c.9372-82_9372-81insACT	ENSP00000305941.3:n.9372-82_9372-81insACT
NM_206933.2:c.9372-82_9372-81insACT	NP_996816.2:n.9372-82_9372-81insACT
NM_206933.3:c.9372-82_9372-81insACT	NP_996816.2:n.9372-82_9372-81insACT
NM_206933.4:c.9372-82_9372-81insACT MANE Select	NP_996816.3:n.9372-82_9372-81insACT